Skip to main content
DNA Labs India

FBN1 Gene Acromicric dysplasia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

FBN1 Gene Acromicric dysplasia NGS Genetic Test

Short Name: FBN1 Acromicric Dysplasia NGS Test

Also known as: Acromicric Dysplasia, FBN1-Related Acromicric Dysplasia

FBN1 Gene Acromicric dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS, Next-Generation Sequencing on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the FBN1 gene associated with acromicric dysplasia for accurate diagnosis, management, and genetic counseling.

Test Code
5644
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS, Next-Generation Sequencing
Step 1

Sample Collection

No special preparation required. Provide clinical history and family pedigree if available.

Method: Blood Collection

Step 2

Laboratory Analysis

A blood sample will be drawn by a trained phlebotomist using sterile techniques.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Keep the area clean.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and family pedigree. No fasting required.
2
During the Test:Blood sample collection followed by NGS analysis in the laboratory.
3
After the Test:Results are reviewed, interpreted, and reported to the patient or physician.

About This Test

Who Should Get This Test

To identify mutations in the FBN1 gene associated with acromicric dysplasia for accurate diagnosis, management, and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for FBN1 mutations can guide management, family planning, and improve outcomes for acromicric dysplasia."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood Collection

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Contaminated sample
  • Improper labeling

Understanding Your Results

Results should be interpreted by a qualified geneticist or healthcare professional in the context of clinical findings.
Positive result: Pathogenic mutation detected in FBN1 gene, indicating acromicric dysplasia risk
Negative result: No pathogenic variants detected, but clinical correlation is needed
Variant of uncertain significance: Further testing or family studies may be required
⚠️ When to Consult a Doctor:

If symptoms persist, family history is present, or results are positive, consult a geneticist or pediatrician for management.

Limitations

  • ⚠May not detect all genetic variations
  • ⚠Requires clinical correlation for diagnosis
  • ⚠Results should be interpreted by a geneticist

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●Potential psychological impact of genetic results
  • ●Risk of genetic discrimination in some contexts

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Improper sample handling

Compare With Similar Tests

TestFBN1 Gene Acromicric dysplasia NGS Genetic TestFBN1 Gene Sanger SequencingMarfan Syndrome Genetic Test
ComparisonFBN1 Gene Acromicric dysplasia NGS Genetic Test

Frequently Asked Questions

What is the FBN1 Gene Acromicric Dysplasia NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the FBN1 gene for mutations associated with acromicric dysplasia, a rare bone growth disorder.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
How is the test performed?
A blood sample or extracted DNA is collected and analyzed using NGS technology to identify mutations in the FBN1 gene.
What are the symptoms of acromicric dysplasia?
Symptoms include short stature, small hands and feet, joint stiffness and pain, thickened skin, and respiratory problems.
Who should consider this test?
Individuals with symptoms of acromicric dysplasia, a family history of the condition, or suspected FBN1 gene mutations.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but genetic testing may have psychological implications.
How should I prepare for the test?
No special preparation is required. Provide clinical history and family pedigree if available.
What do the test results indicate?
Results show whether pathogenic mutations in the FBN1 gene are detected, which can confirm acromicric dysplasia diagnosis.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
Can the test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; for prenatal testing, consult a genetic counselor for appropriate options.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

Related Tests

KIAA0586 Gene Joubert syndrome type 23 NGS Genetic Test

₹20,000

CAT Gene Acatalasemia NGS Genetic Test

₹20,000

BLM Gene Bloom syndrome NGS Genetic Test

₹20,000

FANCC Gene Fanconi anemia type C NGS Genetic Test

₹20,000

TPI1 Gene Triosephosphate isomerase deficiency NGS Genetic Test

₹20,000

PTPN23 Gene Ciliogenesis related disorder NGS Genetic Test

₹20,000
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.